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Objective: We present low-level mosaic trisomy 21 at amniocentesis and cordocentesis in a pregnancy associated with a favorable fetal outcome and perinatal progressive decrease of the trisomy 21 cell line. Case Report: A 36-year-old, primigravid woman underwent amniocentesis at 16 weeks of gestation because of advanced maternal age. This pregnancy was conceived by in vitro fertilization and embryo transfer (IVF-ET). Amniocentesis revealed a karyotype of 47,XY,+21 [3]/46,XY [17] (15% mosaicism) and simultaneous array comparative genomic hybridization (aCGH) analysis on the DNA extracted from uncultured amniocytes revealed the result of arr (21) × 2∼3 (X,Y) × 1, consistent with 24.5% mosaicism for trisomy 21. Cordocentesis performed at 21 weeks of gestation revealed a karyotype of 47,XY,+21 [3]/46,XY [37] (6% mosaicism). She was referred for genetic counseling at 31 weeks of gestation, and continuing the pregnancy was advised. The parental karyotypes and prenatal ultrasound were normal. At 37 weeks of gestation, a phenotypically normal baby was delivered with a body weight of 2900-g. The karyotypes of cord blood, umbilical cord and placenta were 47,XY,+21 [1]/46,XY [39] (2.5% mosaicism), 47,XY,+21 [10]/46,XY [30] (25% mosaicism) and 47,XY,+21 [22]/46,XY [18] (55% mosaicism), respectively. Quantitative fluorescent polymerase chain reaction (QF-PCR) analysis on the DNA extracted from umbilical cord and parental bloods excluded uniparental disomy (UPD) 21 and revealed a maternal origin of the extra chromosome 21. When follow-up at the age of 2 months, the neonate was normal in phenotype and development. The peripheral blood had a karyotype of 47,XY,+21 [1]/46,XY [39] (2.5% mosaicism), and interphase fluorescence in situ hybridization (FISH) analysis on uncultured buccal mucosal cells revealed 4.7% (5/105 cells) mosaicism for trisomy 21, compared with 0% (5/100 cells) in the normal control. Conclusion: Low-level mosaic trisomy 21 at amniocentesis and cordocentesis can be associated with favorable fetal outcome and perinatal progressive decrease of the trisomy 21 cell line.

Objective: We present low-level mosaic trisomy 21 at amniocentesis and cordocentesis in a pregnancy associated with a favorable fetal outcome and perinatal progressive decrease of the trisomy 21 cell line., Case Report: A 36-year-old, primigravid woman underwent amniocentesis at 16 weeks of gestation because of advanced maternal age. This pregnancy was conceived by in vitro fertilization and embryo transfer (IVF-ET). Amniocentesis revealed a karyotype of 47,XY,+21 [3]/46,XY [17] (15% mosaicism) and simultaneous array comparative genomic hybridization (aCGH) analysis on the DNA extracted from uncultured amniocytes revealed the result of arr (21) × 2∼3 (X,Y) × 1, consistent with 24.5% mosaicism for trisomy 21. Cordocentesis performed at 21 weeks of gestation revealed a karyotype of 47,XY,+21 [3]/46,XY [37] (6% mosaicism). She was referred for genetic counseling at 31 weeks of gestation, and continuing the pregnancy was advised. The parental karyotypes and prenatal ultrasound were normal. At 37 weeks of gestation, a phenotypically normal baby was delivered with a body weight of 2900-g. The karyotypes of cord blood, umbilical cord and placenta were 47,XY,+21 [1]/46,XY [39] (2.5% mosaicism), 47,XY,+21 [10]/46,XY [30] (25% mosaicism) and 47,XY,+21 [22]/46,XY [18] (55% mosaicism), respectively. Quantitative fluorescent polymerase chain reaction (QF-PCR) analysis on the DNA extracted from umbilical cord and parental bloods excluded uniparental disomy (UPD) 21 and revealed a maternal origin of the extra chromosome 21. When follow-up at the age of 2 months, the neonate was normal in phenotype and development. The peripheral blood had a karyotype of 47,XY,+21 [1]/46,XY [39] (2.5% mosaicism), and interphase fluorescence in situ hybridization (FISH) analysis on uncultured buccal mucosal cells revealed 4.7% (5/105 cells) mosaicism for trisomy 21, compared with 0% (5/100 cells) in the normal control., Conclusion: Low-level mosaic trisomy 21 at amniocentesis and cordocentesis can be associated with favorable fetal outcome and perinatal progressive decrease of the trisomy 21 cell line., Competing Interests: Declaration of competing interest The authors have no conflicts of interest relevant to this article., (Copyright © 2024. Published by Elsevier B.V.)

Objective: We present mosaic distal 10q deletion at prenatal diagnosis in a pregnancy associated with a favorable fetal outcome., Case Report: A 40-year-old, gravida 2, para 0, woman underwent amniocentesis at 16 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 46,XY, del(10) (q26.13)[6]/46,XY[17]. Simultaneous array comparative genomic hybridization (aCGH) analysis on the DNA extracted from uncultured amniocytes showed 35% mosaicism for the 10q26.13q26.3 deletion. At 22 weeks of gestation, she underwent cordocentesis which revealed a karyotype of 46,XY,del(10) (q26.13)[16]/46,XY[24]. Prenatal ultrasound findings were normal. At 24 weeks of gestation, she was referred for genetic counseling, and repeat amniocentesis revealed a karyotype of 46,XY,del(10) (q26.13)[4]/46,XY[22]. The parental karyotypes were normal. Molecular genetic analysis on uncultured amniocytes revealed no uniparental disomy (UPD) 10 by quantitative fluorescence polymerase chain reaction (QF-PCR), arr 10q26.13q26.3 × 1.6 (40% mosaicism) by aCGH, and 29.8% (31/104 cells) mosaicism for the distal 10q deletion by interphase fluorescence in situ hybridization (FISH). The woman was advised to continue the pregnancy, and a phenotypically normal 2,900-g male baby was delivered at 39 weeks of gestation. The cord blood had a karyotype of 46,XY,del(10) (q26.13)[6]/46,XY[34], and both the umbilical cord and the placenta had the karyotype of 46,XY. When follow-up at age four months, the neonate was normal in phenotype and development. The peripheral blood had a karyotype of 46,XY,del(10) (q26.13)[5]/46,XY[35], and interphase FISH analysis on buccal mucosal cells showed 8% (8/102 cells) mosaicism for distal 10q deletion., Conclusion: Mosaic distal 10q deletion with a normal cell line at prenatal diagnosis can be associated with a favorable fetal outcome and perinatal progressive decrease of the aneuploid cell line., Competing Interests: Declaration of competing interest The authors have no conflicts of interest relevant to this article., (Copyright © 2024. Published by Elsevier B.V.)

Objective: To evaluate the results of cordocentesis carried out in our clinic at Meram Medicine Faculty of Selcuk University in Konya, Turkey. Materials and Methods: Cytogenetic results and complication data were obtained by cordocentesis from 250 pregnancies performed in our clinic. Results: Adequate amount of cord blood was taken 98% of the time, the successful culture rate was 92.8%, and none of the 18 cases in which no proliferation was detected in the culture accepted a new intervention. Cordocentesis was performed in 14 cases (5.6%), because no results were obtained from amniocentesis carried out for various indications. According to cytogenetic evaluation, chromosomal abnormality was detected in 12 cases (5.17%), including four cases of trisomy 21, four cases of trisomy 18, one case of trisomy 13, one case of triploidy (69,XXX) and two cases of chromosomal inversion. Of the 250 cordocentesis cases, there were 12 (4.8%) cases of fetal loss, including four cases of rupture of membranes, four cases of abdominal pain and vaginal bleeding and four cases of a spontaneous abortus. In 53 (21.2%) cases, cordocentesis was performed because of hydrops fetalis; and of the total 12 losses, six were in this group. The fetal loss rate was 11.32% in the hydrops fetalis group. Conclusion: If cordocentesis is carried out by highly skilled physicians and optimal culture conditions are available, cordocentesis is an invasive prenatal diagnostic and therapeutic procedure that is performed secondary to amniocentesis with high accuracy and safety. In cases of hydrops fetalis in which cordocentesis is carried out, fetal loss is more likely to occur.

Human Vγ9Vδ2 T cells respond to several diverse pathogens by sensing microbial cholesterol intermediates. Unlike CD4 T cells, they are poised for rapid Th1-like responses even before birth, which allows them to play a key role in the first line of defense against pathogens in early life. However, their regulation and functional maturation during infancy (in particular the acquisition of cytotoxic potential) remain understudied. We thus characterized their responses to cholesterol intermediates and Bacille Calmette-Guérin in a cohort of African neonates and 12-month-old infants. Infant Vδ2 lymphocytes exhibited intermediate or adult-like expression of markers associated with differentiation or function, intermediate proliferative responses, and adult-like cytotoxic potential. The enhancement of Vδ2 cell cytotoxic potential coincided with decreasing PD-1 and increasing NKG2A expression. Our results are consistent with the hypothesis that switching from a PD-1 + to a NKG2A + phenotype during infancy indicates a shift in mechanisms regulating Vδ2 T cell function., (Copyright © 2020 Elsevier Inc. All rights reserved.)

Background: Thalassemia is one of the most common monogenetic diseases in the south of China and Southeast Asia. Hemoglobin Bart's hydrops fetalis syndrome was caused by a homozygous Southeast Asian deletion (-/-) in the HBA gene. Few studies have proved the potential of screen for Bart's hydrops fetalis using fetal cell-free DNA. However, the number of cases is still relatively small. Clinical trials of large samples would be needed., Objective: In this study, we aimed to develop a noninvasive method of target-captured sequencing and genotyping by the Bayesian method using cell-free fetal DNA to identify the fetal genotype in pregnant women who are at risk of having hemoglobin Bart hydrops fetalis in a large-scale study., Study Design: In total, 192,173 couples from 30 hospitals were enrolled in our study and 878 couples were recruited, among whom both the pregnant women and their husbands were detected to be carriers of Southeast Asian type (-/αα) of α-thalassemia. Prenatal diagnosis was performed by chorionic villus sampling, amniocentesis, or cordocentesis using gap-polymerase chain reaction considered as the golden standard., Results: As a result, we found that the sensitivity and specificity of our noninvasive method were 98.81% and 94.72%, respectively, in the training set as well as 100% and 99.31%, respectively, in the testing set. Moreover, our method could identify all of 885 maternal samples with the Southeast Asian carrier and 36 trisomy samples with 100% of sensitivity in T13, T18, and T21 and 99.89% (1 of 917) and 99.88% (1 of 888) of specificity in T18 and T21, respectively., Conclusion: Our method opens the possibility of early screening for maternal genotyping of α-thalassemia, fetal aneuploidies in chromosomes 13/18/21, and hemoglobin Bart hydrops fetalis detection in 1 tube of maternal plasma., (Copyright © 2019. Published by Elsevier Inc.)

Background: The disorder of pre-eclampsia is described as a complicated gestational state in which some of bio-molecules, including cytokines and chemokines are involved. The main purpose of the current study was examining of the circulating levels of CXCL9, CXCL10 as inducible, angiostasis chemokines as well as CXCL12 as an angiogenesis, homeostatic chemokine, in pregnant women with and without pre-eclampsia and their neonates., Methods: Peripheral blood and cord samples were collected from 53 preeclampsia patients and 53 normal pregnant women without preeclampsia and their related neonates. The differences in serum levels of CXCL9, CXCL10 and CXCL12 and the placental tissue expression of these chemokines were investigated by ELISA and western blot analysis, respectively., Results: Findings of the present study demonstrated that the levels of CXCL9 chemokine in parallel with CXCL12 as homeostatic chemokine were induced in pre-eclamptic women compared with normal pregnant women while CXCL10 remained unchanged. The CXCL9 and CXCL10 were both decreased in neonates who were delivered by pre-eclamptic women in compare to normal pregnant women. A CXCL12 level was elevated in neonates and has followed a similar fashion as mothers., Conclusion: According to the results, the CXC chemokines are involved in pathogenesis of pre-eclampsia and play important roles in several processes such as neovascularization, embryonic development and inflammatory responses that are mediated by pre-eclampsia., (Copyright © 2019. Published by Elsevier B.V.)

Objective: To assess H1N1 antibody titers between vaccinated and nonvaccinated maternal and cord blood sera after the 2009 pandemic., Materials and Methods: Antibody titers were measured in maternal blood and cord sera from three groups of pregnant women in this prospective study. Group 1 comprised women who received a trivalent seasonal influenza vaccine before conception, Group 2 comprised women who received a single injection of monovalent H1N1 vaccine during pregnancy, and Group 3 comprised women who were nonvaccinated. A seropositive or seroprotective hemagglutination inhibition (HAI) assay was defined as titer ≥ 1:40., Results: In this study, 500 healthy women were enrolled, of which 44 women were in the trivalent seasonal influenza vaccine group, 41 women were in the monovalent vaccine group, and 415 women were in the nonvaccinated group. The seropositive HAI titers in the three groups of mothers were 48%, 78%, and 12%, respectively. The HAI titers in the vaccinated groups were significantly higher than those in the nonvaccinated group. The HAI titers of the cord blood samples of the three groups were comparable to their respective maternal samples., Conclusion: Seroprotection after the 2009 HIN1 pandemic was generally low in pregnant women. Vaccination during pregnancy yielded best seropositivity, whereas receiving a trivalent seasonal influenza vaccine before conception can offer better seroprotection to mothers and newborns than no vaccination., (Copyright © 2017 Taiwan Association of Obstetrics & Gynecology. Published by Elsevier B.V. All rights reserved.)

Objective: Pallister-Killian syndrome (PKS) is a rare, sporadic genetic disorder caused by mosaic tetrasomy of the short arm of chromosome 12 (12p). Clinically, PKS is characterized by several systemic abnormalities, such as intellectual impairment, hearing loss, epilepsy, hypotonia, craniofacial dysmorphism, pigmentary skin anomalies, epilepsy, and a variety of congenital malformations. Prenatally, PKS can be suspected in the presence of ultrasound anomalies: diaphragmatic hernia, rhizomelic micromelia, hydrops fetalis, fetal overweight, ventriculomegaly in the central nervous system, congenital heart defects, or absent visualization of the stomach. In all these cases, a detailed genetic study is required. PKS is diagnosed by prenatal genetic analysis through chorionic villus sampling, genetic amniocentesis, and cordocentesis., Case Report: We report two cases of PKS with prenatal diagnosis of isochromosome 12p made by cytogenetic studies. The first case is of a 36-year-old pregnant woman who underwent genetic chorionic villus sampling at 13 th weeks of gestation after 1 st trimester prenatal ultrasound revealed clinical features of PKS: flat nasal bridge and fetal hydrops. The second case is of a 32-year-old pregnant woman with genetic amniocentesis at 17 th weeks of gestation that showed mos46,XX[21]/47,XX,+i(12p) associated to PKS., Conclusion: New molecular cytogenetic techniques array comparative genomic hybridization and fluorescence in-situ hybridization in association with conventional karyotype are pivotal innovative tools to search for chromosomic anomalies and for a complete prenatal diagnosis, especially in cases such as PKS where array comparative genomic hybridization analysis alone could not show mosaicism of i(12p)., (Copyright © 2016. Published by Elsevier B.V.)

Objectif: Offrir aux fournisseurs de soins de maternité et à leurs patientes des lignes directrices factuelles contemporaines en ce qui concerne les services de counseling traitant des risques et des avantages maternels propres à la tenue des interventions diagnostiques prénatales orientées par échographie (et/ou des techniques permettant l'établissement d'un diagnostic génétique) nécessaires dans les cas où il a été établi pendant la période prénatale que la grossesse serait exposée à des risques, ainsi qu'en ce qui concerne la prise de décisions subséquentes quant à la prise en charge de la grossesse (questions abordant des aspects tels que le niveau du fournisseur de soins obstétricaux, la surveillance prénatale, le lieu où devraient se dérouler les soins et l'accouchement, et la décision de poursuivre ou d'interrompre la grossesse). La présente directive clinique se limite aux services de counseling traitant des risques et des avantages maternels, et aux décisions en matière de prise en charge de la grossesse pour les femmes qui nécessitent (ou qui envisagent) la mise en œuvre d'une intervention ou d'une technique effractive orientée par échographie aux fins de l'établissement d'un diagnostic prénatal., Population De Patientes: Femmes enceintes identifiées, à la suite de la mise en œuvre de protocoles établis de dépistage prénatal (taux sériques maternels ± imagerie, résultats d'analyse de l'ADN acellulaire indiquant des risques élevés, résultats anormaux au moment de l'imagerie fœtale diagnostique ou antécédents familiaux de troubles héréditaires), comme étant exposées à un risque accru d'anomalie génétique fœtale. Ces femmes pourraient nécessiter ou demander des services de counseling au sujet des risques et des avantages pour la grossesse de la tenue d'une intervention effractive orientée par échographie visant à déterminer l'étiologie, le diagnostic, et/ou la pathologie de possibles anomalies fœtales. RéSULTATS: La littérature publiée a été récupérée par l'intermédiaire de recherches menées dans Medline, PubMed et The Cochrane Library jusqu'en juin 2014 au moyen d'un vocabulaire contrôlé (« prenatal diagnosis », « amniocentesis », « chorionic villi sampling », « cordocentesis ») et de mots clés (« prenatal screening », « prenatal genetic counselling », « post-procedural pregnancy loss rate ») appropriés. Les résultats ont été restreints aux analyses systématiques, aux études observationnelles et aux essais comparatifs randomisés / essais cliniques comparatifs publiés en anglais entre janvier 1985 et juin 2014. Les recherches ont été mises à jour de façon régulière et intégrées à la directive clinique jusqu'en juin 2014. La littérature grise (non publiée) a été identifiée par l'intermédiaire de recherches menées dans les sites Web d'organismes s'intéressant à l'évaluation des technologies dans le domaine de la santé et d'organismes connexes, dans des collections de directives cliniques, dans des registres d'essais cliniques et auprès de sociétés de spécialité médicale nationales et internationales., Valeurs: La qualité des résultats a été évaluée au moyen des critères décrits dans le rapport du Groupe d'étude canadien sur les soins de santé préventifs (Tableau 1). AVANTAGES, DéSAVANTAGES ET COûTS: Consentement éclairé de la patiente, transfert des connaissances, évaluation du risque génétique prénatal, soulagement de l'anxiété, création d'anxiété, défense des droits, compréhension du dépistage fœtal, limites du dépistage fœtal, choix en matière de prise en charge de la grossesse, complication de la grossesse ou fausse couche, soins opportuns et améliorés pour l'accouchement d'un enfant présentant une morbidité reconnue. RECOMMANDATIONS., (Copyright © 2016. Published by Elsevier Inc.)

Objective: To provide maternity care providers and their patients with current evidence-based guidelines for maternal risk/benefit counselling for a prenatally identified at-risk pregnancy that requires ultrasound-guided prenatal diagnostic procedures and/or techniques for a genetic diagnosis and for subsequent pregnancy management decisions on questions such as level of obstetrical care provider, antenatal surveillance, location of care and delivery, and continuation or termination of pregnancy. This guideline is limited to maternal risk/benefit counselling and pregnancy management decisions for women who require, or are considering, an invasive ultrasound-guided procedure or technique for prenatal diagnosis., Patient Population: Pregnant women identified as having an increased risk of a fetal genetic abnormality secondary to the process of established prenatal screening protocols (maternal serum±imaging, high-risk cell-free DNA results, abnormal diagnostic fetal imaging, or a positive family history of an inherited condition). These women may require or request counselling about pregnancy risks and benefits of an invasive ultrasound-guided procedure to determine the etiology, diagnosis, and/or pathology for the possible fetal anomaly or anomalies., Evidence: Published literature was retrieved through searches of Medline, PubMed, and the Cochrane Library in and prior to June 2014 using an appropriate controlled vocabulary (prenatal diagnosis, amniocentesis, chorionic villi sampling, cordocentesis) and key words (prenatal screening, prenatal genetic counselling, post-procedural pregnancy loss rate). Results were restricted to systematic reviews, randomized control trials/controlled clinical trials, and observational studies written in English and published from January 1985 to June 2014. Searches were updated on a regular basis and incorporated in the guideline to June 2014. Grey (unpublished) literature was identified through searching the websites of health technology assessment and health technology-related agencies, clinical practice guideline collections, clinical trial registries, and national and international medical speciality societies., Values: The quality of evidence in this document was rated using the criteria described in the Report of the Canadian Task Force on Preventive Health Care (Table 1). Health benefits, side effects, and risks: Patient informed consent, knowledge translation, genetic prenatal risk assessment, anxiety relief, anxiety creation, advocacy, understanding or limitation for fetal testing, pregnancy management choice, pregnancy complication or loss, timely and improved care for birth of a neonate with recognized morbidity. Recommendations 1. The health care provider should counsel the at-risk pregnant woman on the different levels of genetic fetal testing in order for her to have a clear understanding and expectation of the level of testing and type of results that are offered. (III-B) 2. As part of the informed consent process, the health care provider should review with the at-risk pregnant woman the risks and benefits of in utero genetic diagnostic techniques associated with fetal genetic testing options. (III-A) 3. During risk/benefit counselling, the health care provider should advise that the best estimate of the pregnancy loss rate related to: a.amniocentesis is 0.5% to 1.0% (range 0.17 to 1.53%) (I) b.chorionic villus sampling is 0.5% to 1.0% (I) and c.cordocentesis or percutaneous umbilical blood sampling is 1.3% for fetuses with no anomalies and 1.3% to 25% for fetuses with single or multiple anomalies or intrauterine growth restriction. (II-2A).

Objective: We sought to provide evidence-based guidelines for the diagnosis and management of fetal anemia., Methods: A systematic literature review was performed using MEDLINE, PubMed, EMBASE, and the Cochrane Library. The search was restricted to English-language articles published from 1966 through May 2014. Priority was given to articles reporting original research, in particular randomized controlled trials, although review articles and commentaries were consulted. Abstracts of research presented at symposia and scientific conferences were not considered adequate for inclusion. Evidence reports and published guidelines were also reviewed, and additional studies were located by reviewing bibliographies of identified articles. GRADE (Grading of Recommendations Assessment, Development, and Evaluation) methodology was used for defining the strength of recommendations and rating the quality of evidence. Consistent with US Preventive Task Force guidelines, references were evaluated for quality based on the highest level of evidence., Results and Recommendations: We recommend the following: (1) middle cerebral artery peak systolic velocity (MCA-PSV) measured by ultrasound Doppler interrogation be used as the primary technique to detect fetal anemia; (2) amniotic fluid delta OD450 not be used to diagnosis fetal anemia; (3) MCA-PSV assessment be reserved for those patients who are at risk of having an anemic fetus (proper technique for MCA-PSV evaluation includes assessment of the middle cerebral artery close to its origin, ideally at a zero degree angle without angle correction); (4) if a fetus is deemed at significant risk for severe fetal anemia (MCA greater than 1.5 multiples of the median or hydropic), fetal blood sampling be performed with preparation for an intrauterine transfusion, unless the pregnancy is at a gestational age when the risks associated with delivery are considered to be less than those associated with the procedure; (5) if a fetus is deemed at significant risk for severe fetal anemia, the patient be referred to a center with expertise in invasive fetal therapy; (6) MCA-PSV be considered to determine the timing of a second transfusion in fetuses with anemia, and, alternatively, a predicted decline in fetal hemoglobin may be used for timing the second procedure; and (7) pregnancies with a fetus at significant risk for fetal anemia be delivered at 37-38 weeks of gestation unless indications develop prior to this time., (Copyright © 2015. Published by Elsevier Inc.)

Objective: We sought to review indications, technical aspects, risks, and recommendations for fetal blood sampling (FBS)., Methods: A systematic review was performed using MEDLINE, PubMed, EMBASE, and Cochrane Library using the terms "fetal blood sampling," "percutaneous umbilical blood sampling," and "cordocentesis." The search was restricted to English-language articles published from 1966 through July 2012. Priority was given to articles reporting original research, in particular randomized controlled trials, although review articles and commentaries also were consulted. Abstracts of research presented at symposia and scientific conferences were not considered adequate for inclusion in this document. Evidence reports and guidelines published by organizations or institutions such as the National Institutes of Health, Agency for Health Research and Quality, American Congress of Obstetricians and Gynecologists, and Society for Maternal-Fetal Medicine were also reviewed, and additional studies were located by reviewing bibliographies of identified articles. Grade (Grading of Recommendations Assessment, Development, and Evaluation) methodology was employed for defining strength of recommendations and rating quality of evidence. Consistent with US Preventive Task Force guidelines, references were evaluated for quality based on the highest level of evidence., Results and Recommendations: Ultrasound-guided FBS is the only procedure that provides direct access to the fetal circulation. When invasive testing is planned for suspected severe fetal anemia or thrombocytopenia, we recommend FBS as the procedure of choice, with availability of immediate transfusion if confirmed. We recommend against the use of FBS for indications in which other less invasive, and therefore lower risk, alternatives are available. The overall success rate of FBS is high, and blood samples can be obtained in >98% of patients. We suggest that counseling for FBS include discussion about the potential risk of FBS that may include, but may not be limited to: bleeding from puncture site (20-30%); fetal bradycardia (5-10%); pregnancy loss (≥1.3%, depending on indication, gestational age, and placental penetration); and vertical transmission of hepatitis or human immunodeficiency virus. We recommend that FBS be performed by experienced operators at centers with expertise in invasive fetal procedures when feasible., (Copyright © 2013 Mosby, Inc. All rights reserved.)

Up to 3% of UK pregnancies will be affected by congenital abnormality. Prenatal diagnosis allows the parents to make informed decisions about their pregnancy, healthcare professionals to optimise the antenatal care and families prepare for the birth of the baby. There are many techniques employed which range from the non-invasive ultrasonography to the highly invasive amniocentesis. This review explores the methods currently available in the UK as well as considering the newer minimally-invasive technologies available including cell-free fetal DNA and pre-implantation genetic diagnosis., (Copyright © 2011 Elsevier Ireland Ltd. All rights reserved.)

Objective: We sought to prevent intracranial hemorrhage (ICH) through antenatal management of alloimmune thrombocytopenia., Study Design: A total of 33 women (37 pregnancies) with alloimmune thrombocytopenia and ICH in a previous child were stratified according to the timing of the previous child's ICH: extremely high risk (HR) (n = 8) had ICH <28 weeks, very HR (n = 17) between 28-36 weeks, and HR (n = 12) in the perinatal period. Treatment was initiated at 12 weeks with intravenous immunoglobulin 1 or 2 g/kg/wk, and if the fetal platelet count by cordocentesis was <30,000/mL despite treatment, prednisone and/or more intravenous immunoglobulin were added., Results: Five of 37 fetuses suffered ICHs. Two ICHs had platelet counts >100,000/mL, and 1 was grade I. The other 2 ICHs were unequivocal treatment failures; both were grade III-IV and resulted in fetal demise., Conclusion: These findings demonstrate the success of stratified treatment in these HR patients, which tailored interventions according to the timing of the sibling's ICH., (Copyright (c) 2010 Mosby, Inc. All rights reserved.)

Objective: The purpose of this study was to assess the placental transport of the essential amino acids (EAAs) in normal pregnancies., Study Design: Nine ((13)C or (2)H) EAAs were infused simultaneously as a bolus into the maternal circulation of 12 patients with uncomplicated pregnancy before cesarean delivery. Maternal samples were collected before and after the bolus; umbilical blood was collected at delivery. The fetal/maternal molar percent enrichment for each EAA was calculated for both the umbilical vein and artery. Plasma amino acids enrichments were analyzed by gas chromatography mass spectrometry and concentrations by high performance liquid chromatography. Data were analyzed with paired and unpaired t-test., Results: The umbilical arterial enrichments were significantly lower than the venous. Fetal/maternal ratios for leucine, isoleucine, methionine, and phenylalanine were > 0.80, with no significant differences among their molar percent enrichment ratios, whereas fetal/maternal ratios of the other 5 EAAs were significantly lower (< 0.60)., Conclusion: The EAAs showed significant umbilical uptake and striking differences in their transport rates in vivo.

Objective: The objective of the study was to examine 1 center's experience with fetal blood sampling via the fetal intrahepatic vein (IHV) and cordocentesis., Study Design: Consecutive IHV and cordocentesis procedures between July 1987 and February 2006 were compared with respect to success rates, streaming at the sampling site, nonreassuring fetal heart rate (NRFHR), or need for urgent delivery post procedure. A subanalysis of cases with fetal thrombocytopenia was performed. Data were analyzed using Fisher's exact and Student t tests., Results: Two hundred ten procedures (130 IHV samplings and 110 cordocenteses) were identified. Success rates were significantly higher with IHV sampling than with cordocentesis (84.6% vs 69.1%, P = .004). Streaming from the sampling site occurred after 0.79% of IHV procedures vs 30.8% of cordocenteses (P < .0001). There was no difference between IHV and cordocentesis in the incidence of NRFHR or need for immediate delivery. Twenty-five cases of fetal thrombocytopenia (20 sampled via IHV, 5 by cordocentesis) were identified. Streaming from the sampling site occurred in 0 of 20 IHV cases vs 2 of 5 cordocentesis cases (40%) (P = .03)., Conclusion: IHV has a significantly lower rate of streaming from the sampling site, compared with cordocentesis. Our data suggest that IHV sampling conveys a particular advantage when fetal thrombocytopenia is suspected.

Objective: In nonimmune pregnant woman, the primary infection with parvovirus B19 may lead to transplacental transmission to the fetus with variable outcomes, including congenital anemia, hydrops fetalis, fetal death or spontaneous resolution., Case Report: The first case was of a 28-year-old woman, gravida 2, para 1, whose fetus was found to have left-sided pleural effusion on a sonogram at 29 weeks of gestation. A sample of aspirated pleural fluid was positive for parvovirus B19 by polymerase chain reaction. Cordocentesis showed fetal hemoglobin level of 5.0 g/dL. Intraperitoneal transfusion (IPT) was performed, because access to the fetal circulation was difficult. Thirty milliliters of group O, Rh-positive packed red cells were transfused into the peritoneal cavity. A non-hydropic baby weighing 2,680 g was delivered at 33 weeks of gestation. The neonates complete blood count examination showed a hemoglobin level of 16.3 g/dL. The newborn baby was discharged in stable condition. The second case was of a 31-year-old woman, gravida 2, para 1, whose fetus was found to have ascites, hypertrophic cardiomyopathy, and placentomegaly on a sonogram at 23 weeks of gestation. An amniotic fluid sample was positive for parvovirus B19 DNA by polymerase chain reaction. Fetal ascites and hypertrophic cardiomyopathy gradually resolved after maternal iron supplementation and 2 weeks of intrauterine digitalization therapy. A healthy infant weighing 3,198 g was delivered at 37 weeks of gestation. The neonates complete blood count examination showed a hemoglobin level of 10.3 g/dL., Conclusion: Termination of pregnancy is rarely indicated, because B19 virus is not teratogenic. Although intravascular transfusion offers obvious theoretical advantages, in some cases in which access to the fetal circulation is difficult or impossible, IPT should be performed combined with appropriate medical treatment. Thus, there is still a place for IPT in modern management of the severely anemic fetus, and this technique should not be neglected.

Objective: The purpose of this study was to identify physiologic determinants of the peak systolic blood flow velocity (PSV) of the middle cerebral artery (MCA) in the human fetus., Study Design: MCA PSV was measured with pulsed wave Doppler ultrasound in human fetuses who underwent cordocentesis. Hemoglobin, hematocrit, and blood gas values were analyzed from umbilical venous blood, and the data were normalized for gestational age. Total oxygen content of fetal venous blood was calculated from oxygen saturation, hemoglobin value, and pO2. Correlation and logistic regression analyses were performed to identify primary physiologic determinants of MCA PSV., Results: In 136 fetuses who underwent cordocentesis (predominantly for alloimmune disease), hematocrit, hemoglobin, and blood oxygen content correlated significantly with the MCA PSV (P < .01). Logistic regression modeling demonstrated that fetal hemoglobin content (odds ratio, 7.1; 95% CI, 3.71-13.7) and pCO2, but not pO2 or fetal blood oxygen content, accounted for increases in MCA PSV., Conclusion: Under physiologic circumstances, fetal hemoglobin, and not fetal oxygenation, primarily determines the middle cerebral artery peak systolic velocity.

Objectives: Our purpose was to study a non-invasive management of fetomaternal alloimmune thrombocytopenia (FMAIT)., Patients and Methods: Between 1996 and 2005, 18 women were treated. The population was divided into 2 groups: patients with a history of intracranial haemorrhage (ICH) in the older sibling received weekly intravenous immunoglobulin (IVIG) therapy to the mother (1 g/kg per week) without initial cordocentesis whereas patients with a history of neonatal thrombocytopenia did not undergo any treatment., Results: All pregnancies with a previous FMAIT were monitored with serial ultrasound scans without cordecentesis. 15 patients had HPA-1, 2 HPA-3 and 1 HPA-5 immunizations. Weekly intravenous immunoglobulin therapy was administered in 5 patients with a history of ICH in the older sibling. Two of these delivered thrombocytopenic children; one had a platelet count < 50 x 10(9)/l. For the 13 women (one twin) who had a sibling with neonatal thrombocytopenia, 11/14 newborns had a platelet count < 50 x 10(9)/l. Predelivery fetal blood sampling were performed in 8/18 pregnancies. The neonatal periods of the 19 children were uncomplicated and no ICHs were observed., Discussion and Conclusion: Our results suggest that a non-invasive strategy avoiding serial cordocentesis may be an effective therapy in patients who are at risk of fetal and neonatal alloimmune thrombocytopenia.

Aim of the Study: Intra-uterine growth retardation (IUGR) is a frequent pathology in obstetrics characterized by high heterogeneity. Fetal smallness is sometimes constitutional, but can also be accompanied by fetal distress and vital risks for the infant. In 35 pregnancies complicated by IUGR of different etiologies, we measured on fetal blood obtained by cordocentesis, biochemical variables characteristic of the fetuses' respiratory and metabolic status. The aim of the study was to identify the discriminative biological alterations, related to growth retardation and fetal distress., Patients and Methods: The studied population includes 27 cases of severe IUGR, of gestational age 30,2+/-4,6 weeks of gestation (WG) (divided into 20 cases of isolated IUGR and 7 cases of IUGR associated with malformative syndrome), as well as 8 cases of moderate IUGR, of gestational age 26+/-4,5 WG; all fetuses had normal karyotypes. A group of 73 normal fetuses, of gestational age 26,3+/-5,7 WG, constituted a reference population. PH, pCO(2), bicarbonate concentration, pO(2) and SaO(2), as well as glucose, pyruvate, lactate, free fatty acids, aceto-acetate, beta-hydroxybutyrate and cholesterol concentrations were measured on umbilical venous blood (UVB)., Results: In case of severe but isolated growth retardation, UVB analysis showed the frequency of acid-base and gasometric disturbances: acidemia and hypoxemia (65% of cases), hypercapnia (60% of cases). Metabolic abnormalities were shown: decrease in glycemia (35% of cases), increase in pyruvatemia and lactatemia (40% of cases), increased free fatty acids serum concentration; a diminution of umbilical venous cholesterol level, the most frequent abnormality, can be seen in 70% of fetuses. In case of severe IUGR associated with malformative syndrome, UVB acid-base and metabolic changes were rarely seen; however, UVB cholesterol level is low in some cases. In case of growth retardation classified as moderate, modifications are relatively not frequent and essentially gasometric., Conclusion: In about 60% of cases of severe and isolated IUGR, there is a risk of fetal distress, related to an alteration of the transplacental transfer of respiratory gases and nutritional substrates; chronic fetal malnutrition can be involved, with an impact on the growth of the fetus. In case of IUGR associated with malformative syndrome, fetal smallness is probably a result of intrinsic fetal damage, without nutritional origin.

Objective: The aim of this study was to determine the platelet count in fetuses undergoing cordocentesis for hydrops caused by parvovirus infection., Study Design: Fetal platelets were measured at cordocentesis in 11 pregnant women who underwent the procedure because of fetal ascites and/or hydrops caused by parvovirus infection. Thrombocytopenia was defined as mild (platelet count < 150 x 10(9)/L), moderate (platelet count < or = 100 x 10(9)/L), or severe (platelet count to < or = 50 x 10(9)/L). Paired Student t test was performed to compare the platelet count before and after the transfusion., Results: The fetuses underwent 20 cordocenteses. They were thrombocytopenic in 17 and anemic in 15 occasions. The platelet count was reduced after the transfusion (P < .05). Demises occurred after the first transfusion in 2 fetuses. The first occurred within 5 minutes from the procedure and the second within 24 hours. Both were attributed to exsanguination from the umbilical cord puncture site (platelet count 2 and 24 x 10(9)/L, respectively)., Conclusion: Thrombocytopenia is common in fetuses with hydrops caused by parvovirus infection, and can cause exsanguination from the umbilical cord puncture site. We recommend platelet transfusion during cordocentesis when there is severe thrombocytopenia.

Objective: Studies that mostly were conducted before the widespread use of combination antiretroviral treatments have reported that antenatal invasive procedures markedly increase the risk of human immunodeficiency virus vertical transmission. We aimed to evaluate the vertical transmission rate and other maternal and neonatal complications among women who were infected with human immunodeficiency virus who underwent antenatal invasive procedures during the second trimester of pregnancy and who were delivered after the advent of antiretroviral regimens., Study Design: We conducted a multicenter case series of women who were infected with human immunodeficiency virus who underwent amniocentesis or chorionic villus sampling or cordocentesis during the second trimester of pregnancy and who were delivered after January 1, 1997., Results: Sixty-three of 775 recruited women (8.1%) had performed early invasive diagnostic techniques . This rate has improved progressively from 4% in 1997 to 14%. Two of 60 viable infants (3.3%; 95% CI, 0.6%-10.1%) were infected with the human immunodeficiency virus. This rate did not differ significantly from the transmission rate that was observed in women who did not undergo antenatal invasive techniques (1.7%; P = .30)., Conclusion: The current risk of human immunodeficiency virus vertical transmission that is associated with early invasive diagnostic techniques is lower than previously reported.

Objective: The purpose of this study was to compare fetal middle cerebral artery peak systolic velocity with amniotic fluid delta optical density at 450 nm in the prediction of fetal anemia., Study Design: A prospective study that involved 28 singleton pregnancies that were at-risk for fetal anemia was carried out in a tertiary teaching hospital. Middle cerebral artery peak systolic velocity was measured immediately before the determination of deltaoptical density at 450 nm and fetal hemoglobin concentration. Sensitivities and predictive values for fetal anemia were examined., Results: Fetal hemoglobin concentrations correlated significantly with middle cerebral artery peak systolic velocity (correlation coefficient, -0.77; P <.0001) and deltaoptical density at 450 nm zones (correlation coefficient, -0.56; P =.0025). Middle cerebral artery peak systolic velocity was >1.5 multiples of the median in 15 of 28 cases (54%); for this cutoff value, the sensitivity and positive-predictive values for a hemoglobin deficit of >-3SD were 75% and 60% and for a hemoglobin deficit of >-5SD were 100% and 47%, respectively. The corresponding values for deltaoptical density at 450-nm zone III (6/28 cases, 21%) were 0% (hemoglobin deficit, <-3SD) and 86% and 100% (hemoglobin deficit, <-5SD)., Conclusion: Middle cerebral artery peak systolic velocity and amniotic fluid optical density at 450 nm are both useful in the prediction of fetal anemia. However, Doppler examination has the advantage of being a noninvasive method that can help reduce the number of invasive procedures in pregnancies that are at-risk for fetal anemia.

Objective: The purpose of this study was to evaluate the feasibility of the middle cerebral artery peak systolic velocity for the detection of fetal anemia in pregnancies that are complicated by parvovirus B19 infection., Study Design: Doppler measurements of the middle cerebral artery peak systolic velocity were performed weekly in 32 fetuses at risk for anemia because of maternal parvovirus infection documented by the presence of serum immunoglobulin M antibody. The values of the middle cerebral artery peak systolic velocity and hemoglobin were expressed as multiples of the median. These values were plotted on reference ranges that had been established previously. A cordocentesis was performed either because of fetal ascites or when the middle cerebral artery peak systolic velocity values suggested anemia (middle cerebral artery peak systolic velocity, >1.50 multiples of the median)., Results: Gestational age at study entry ranged from 15.1 to 37 weeks. There were 17 fetuses with middle cerebral artery peak systolic velocity of >1.50 MoM (group 1). Sixteen cordocenteses were performed in these fetuses. All 16 fetuses were anemic (15 severely and 1 mildly). Thirteen fetuses had signs of hydrops (12 with severe and 1 with mild anemia). Group 2 included 15 fetuses with the middle cerebral artery peak systolic velocity values <1.50 MoM. Two cordocenteses were performed. One fetus was mildly anemic; the second fetus was not anemic. The remaining 13 fetuses of this group did not have any complications and were not anemic at birth. The sensitivity of the middle cerebral artery peak systolic velocity (>1.50 MoM) for the prediction of anemia because of parvovirus infection was 94.1%; the specificity was 93.3 %; the positive and negative predictive values were 94.1% and 93.3%, respectively., Conclusion: Fetal anemia caused by parvovirus infection can be detected noninvasively by Doppler ultrasonography on the basis of an increase in the peak velocity of systolic blood flow in the middle cerebral artery.

Objectives: Cystatin C and beta(2)-microglobulin are established serum markers of renal function in children and adults. In contrast to creatinine, diaplacental exchange is minimal. The aim of the study was to establish reference values in fetal serum and to test their efficiency in predicting postnatal kidney function., Study Design: This was a prospective noninterventional study measuring cystatin C and beta(2)-microglobulin by particle-enhanced immunoturbidimetry in excess serum from 129 cordocenteses performed in 84 fetuses. Reference intervals (mean +/- 1.96 SD) were calculated in a subgroup of 54 fetuses without evidence of kidney disease, and these reference values were evaluated in 75 sera from 55 fetuses., Results: Mean cystatin C was 1.66 +/- 0.202 mg/L (upper limit 2.06), and mean beta(2)-microglobulin was 4.25 +/- 0.734 mg/L. Unlike cystatin C, beta(2)-microglobulin decreased significantly with gestational age so that the upper reference limit was 7.19-0.052 x gestational age in weeks. beta(2)-Microglobulin had higher sensitivity (90.0% vs 63.6%) and cystatin C a higher specificity (91.8% vs. 85.5%) for the prediction of impaired renal function; diagnostic efficiency was equal (87.6% vs. 86.1%). Fetuses with impaired renal function at birth or who were aborted for renal malformations had higher cystatin C concentrations than those in a control group. beta(2)-Microglobulin was increased only in fetuses who were aborted., Conclusion: Fetal serum cystatin C and beta(2)-microglobulin concentrations may be useful predictors of postnatal kidney function.

Hereditary xerocytosis is a rare hemolytic anemia occurring secondary to a defect in cell membrane potassium flux. We report a case of severe fetal anemia and non-immune hydrops secondary to hereditary xerocytosis that was managed successfully with in utero erythrocyte and albumin transfusion.

Objective: The purpose of this study was to evaluate the screening performance of a new middle cerebral artery Doppler velocimetric index for the prediction of fetal anemia., Study Design: Doppler velocimetry of the middle cerebral artery was performed before cordocentesis in 24 Rh-alloimmunized fetuses without hydrops on 52 occasions. The angle between the line describing the average slope during the diastolic phase of the cardiac cycle and the vertical, the middle cerebral artery standardized deceleration angle, was measured. The deceleration angle values were expressed in multiples of the median for gestational age. The screening performances of deceleration angle for the prediction of anemia (difference between expected mean hemoglobin level and measured value >/=2 g/dL) and severe anemia (hemoglobin deficit >/=5 g/dL) were determined., Results: The mean (+/-SD) gestational age at cordocentesis was 28.6 +/- 5.7 weeks' gestation. The risk of fetal anemia increased with decreasing deceleration angle values. The sensitivity and false-positive rate for the detection of anemia in cases with no previous transfusions (one measurement per patient) were 72.0% and 13.3%, respectively; among those with one previous transfusion the values were 90.0% and 0.0%, respectively. For severe anemia the corresponding values were 100% and 0%, respectively, among those with no previous transfusions and 100.0% and 16.7%, respectively, among those with one previous transfusion. There was no risk of severe anemia when the angle was >0.9 multiples of the median. The risk of anemia was significantly reduced with an angle greater than the median for gestational age (deceleration angle >1.0 multiples of the median; relative risk, 0.09; 95% confidence interval, 0.02-0.37). The risk was significantly increased with an angle less than the median for gestational age (deceleration angle <1.0 multiples of the median; relative risk, 30.0; 95% confidence interval, 5.9-158.4)., Conclusion: The risk of fetal hydrops is remote in the absence of severe anemia. With a new Doppler velocimetric index in the middle cerebral artery the risk of severe anemia was found to be low when the deceleration angle was >0.9 multiples of the median. Anemia can also be predicted with this index. The high sensitivities and acceptable false-positive rates support the potential clinical applicability of the method to reduce the reliance on cordocentesis in Rh alloimmunization. Our findings appear to validate the utility of the deceleration angle for the prediction of fetal anemia.

Objective: The optimal management of pregnancies at risk for neonatal alloimmune thrombocytopenia is debated. Proposed management includes the administration of intravenous immunoglobulin and serial determination of the fetal platelet count. The aims of our study were to determine the effectiveness and likely mechanism of action of intravenous immunoglobulin and to evaluate the safety of cordocentesis in cases of neonatal alloimmune thrombocytopenia., Study Design: Eighteen mother-infant pairs were studied. All were at risk for neonatal alloimmune thrombocytopenia on the basis of delivery of a previously affected infant and confirmation of specific maternal antiplatelet antibodies. The pertinent antigen was HPA-1a in 13 cases, HPA-3a in 2 cases, and undetermined in 3 cases. Serial cordocenteses were used to determine fetal platelet counts. If the platelet count was <50,000/microL before 37 weeks' gestation, treatment was initiated with intravenous immunoglobulin administered to either the fetus (n = 2) or the mother (n = 8). In 3 cases fetal and maternal immunoglobulin G levels were determined before and after treatment., Results: Seven (39%) fetuses had adequate platelet counts, were not treated, and were delivered of infants with normal platelet counts. Eleven (61%) fetuses were thrombocytopenic. Eight thrombocytopenic infants were treated with maternally administered intravenous immunoglobulin. In 6 (75%) of 8 cases the fetal platelet count increased after administration of intravenous immunoglobulin, but 2 fetuses remained severely thrombocytopenic. Two thrombocytopenic fetuses were treated with intravenous immunoglobulin infusion directly into the umbilical vein; both remained thrombocytopenic. Moreover, fetal immunoglobulin G levels did not correlate well with the response to intravenous immunoglobulin. Two (5.3%) of 38 cordocenteses were complicated by hemorrhagic complications, necessitating immediate cesarean delivery despite the use of prophylactic platelet transfusion in one case., Conclusion: Severe fetal alloimmune thrombocytopenia does not always occur in subsequent fetuses. Thus either fetal antigen status or platelet counts or both of these are necessary to determine whether treatment is needed. The effect of intravenous immunoglobulin on raising the fetal platelet count is inconsistent and appears to be caused by maternal or placental factors rather than a direct inhibition of fetal platelet destruction by immunoglobulin. The risk of hemorrhagic complications from cordocentesis in pregnancies complicated by neonatal alloimmune thrombocytopenia is higher than generally appreciated and is not always avoided by platelet transfusion at the time of the procedure.

Objective: Our purpose was to evaluate different methods of diagnosing congenital toxoplasmosis prenatally by amniocentesis and cordocentesis., Study Design: In a retrospective multicenter study, we investigated consecutive women who had seroconversion for Toxoplasma gondii during pregnancy and who underwent either amniocentesis or cordocentesis or both to obtain a prenatal diagnosis of fetal toxoplasmosis. Data were obtained from 122 patients recruited in 6 different European Toxoplasma reference centers. Infants born to these mothers were followed up until 1 year of age to confirm or exclude congenital toxoplasmosis. Sensitivity, specificity, positive predictive value, and negative predictive value were measured for the following parameters: (1) detection of the parasite in amniotic fluid by mouse inoculation, (2) detection of the parasite in amniotic fluid by in vitro cell culture, (3) detection of Toxoplasma deoxyribonucleic acid in amniotic fluid by a polymerase chain reaction assay, (4) detection of the parasite in fetal blood by mouse inoculation, (5) detection of specific immunoglobulin M antibodies in fetal blood, and (6) detection of specific immunoglobulin A antibodies in fetal blood., Results: The polymerase chain reaction test performed on amniotic fluid had the highest level of sensitivity (81%) and also a high level of specificity (96%). The combination of the polymerase chain reaction test and mouse inoculation of amniotic fluid increased sensitivity to 91%. The sensitivity of immunoglobulins M and A in fetal blood was 47% and 38%, respectively. In congenitally infected fetuses a negative correlation was observed between positive serologic parameters and gestational age at the time of maternal infection and at prenatal diagnosis., Conclusion: Congenital toxoplasmosis is best predicted by prenatal examination with the combination of T gondii polymerase chain reaction and mouse inoculation of amniotic fluid. The role of cordocentesis in the diagnosis of congenital toxoplasmosis is limited.

Objective: Neopterin is generated by macrophages and monocytes in response to cytokine and endotoxin stimulation and is a sensitive marker of the severity of infectious-, autoimmune-, and alloimmune-mediated inflammatory disorders. This study was designed to evaluate fetal and maternal neopterin concentrations during the second half of pregnancy., Study Design: We conducted a cross-sectional analysis of serum neopterin values with a sensitive radioimmunoassay in 35 paired fetal and maternal and 8 neonatal samples. The fetal and maternal samples were obtained between 20 and 38 weeks' gestation at the time of diagnostic cordocentesis. All maternal, fetal, and neonatal samples were derived from uncomplicated pregnancies resulting in term delivery of appropriately grown fetuses., Results: Fetal neopterin concentrations increased across gestation (r = 0.64, P <.001), and mean values were significantly higher than paired maternal values (6.28 [+/-2.44] ng/mL vs 2.05 [+/-0.87] ng/mL, P <.001]. In contrast, maternal neopterin concentrations did not correlate with gestational age (r = 0.22, P =.24). No significant correlation was found between fetal and maternal values (r = 0.34, P =.07)., Conclusion: Fetal neopterin values rise significantly across gestation. They are substantially greater than maternal levels and are not correlated significantly with paired maternal levels. These findings are the first report of a physiologically normal range for fetal neopterin concentrations in a sample of uncomplicated pregnancies. The values suggest progressive increases in fetal cell-mediated immunity and macrophage-monocyte activation as gestation progresses.

Objective: We evaluated monoclonal antibodies to 3 cell surface and 3 intracellular antigens for their relative usefulness as markers to identify fetal cells in maternal blood., Study Design: With indirect immunocytochemical labeling techniques, antigen expression was studied in 52 fetal blood samples as a function of gestational age, fetal karyotype, the presence of multiple anomalies detectable on ultrasonography, and anemia., Results: A decline in the expression of these antigens as gestational age advanced was demonstrated. Samples from karyotypically abnormal fetuses, fetuses with multiple anomalies, and anemic fetuses showed an antigenic distribution that was immature for gestational age. In normal fetuses zeta globin and epsilon globin expression decreased after 12 to 14 weeks, potentially limiting the utility of these proteins as fetal cell markers in the isolation of fetal cells from maternal blood., Conclusions: The results of this study demonstrate a fetal developmental hematologic profile that varies with gestational age and also with pathologic condition. Antibodies to the gamma chain of fetal hemoglobin and the transferrin receptor (CD71) are the most useful fetal cell-identifying reagents.

Objective: The aim of the study was to determine how perinatologists in the United States manage the care of women with immune thrombocytopenic purpura with respect to mode of delivery., Study Design: US members of the Society of Perinatal Obstetricians were surveyed with a 4-question questionnaire. Two mailings were sent. Questions 1 and 2 asked for a response regarding the perinatal management of delivery for women with chronic immune thrombocytopenic purpura and new-onset disease. The options were cordocentesis or fetal scalp blood sampling and cesarean delivery if the platelet count was <50,000 cells/microL, cesarean delivery if the maternal platelet count was <50,000 cells/microL, cesarean delivery of all women with immune thrombocytopenic purpura, and trial of labor without determining fetal platelet count. The third question asked for an opinion on whether cesarean delivery was protective against intracranial hemorrhage in cases of immune thrombocytopenic purpura. The fourth question asked whether the practitioner was in academic or private practice or both., Results: Among the 1596 perinatologists surveyed, there were 940 informative responses (58.9%). Most would allow a trial of labor for women with chronic (59.0%) or new-onset (66.6%) immune thrombocytopenic purpura. In cases of chronic immune thrombocytopenic purpura, 31.0% of those responding would perform an invasive procedure to determine fetal platelet count, followed by cesarean delivery if this count was <50, 000 cells/microL. In cases of new-onset immune thrombocytopenic purpura, 25.4% would do so. Of the respondents, 11.8% reportedly considered cesarean delivery protective against intracranial hemorrhage, whereas 56.6% did not and 31.6% were unsure., Conclusions: The management of women with immune thrombocytopenic purpura remains controversial in the United States. Approximately two thirds of perinatologists would allow a trial of labor without a procedure to determine fetal platelet count. Most physicians surveyed did not consider cesarean delivery to be protective against intracranial hemorrhage.

Objective: Our purpose was to investigate the evaluation and management of parvovirus infection during pregnancy., Study Design: Surveys were mailed to members of the Society of Perinatal Obstetricians residing in the United States and Canada in July 1997. They were asked about their evaluation and management of parvovirus infection, including whether they repeated and confirmed serologic studies, what their initial and follow-up evaluations included, whether they had had any cases of parvovirus-associated hydrops in the past 2 years, and if so, what were the management and outcomes of the hydropic fetuses., Results: Surveys were mailed to 1623 members of the Society of Perinatal Obstetricians and 541 completed surveys were returned. Sixty-eight percent of the respondents repeated and confirmed serologic studies. Eighty-nine percent used ultrasonography in their initial management of pregnant patients with recent parvovirus infection, 7.5% used amniocentesis for polymerase chain reaction, and 2% used fetal blood sampling. The outcomes of the 539 cases of parvovirus-induced hydrops included spontaneous resolution in 34%, death without intrauterine transfusion in 30%, resolution after intrauterine transfusion in 29%, death after intrauterine transfusion in 6%, and pregnancy termination in 1%. Almost all cases of nonimmune hydrops reported occurred between 16 and 32 weeks., Conclusions: Approximately one third of the cases of parvovirus-induced nonimmune hydrops resolved spontaneously, whereas 83.5% of hydropic fetuses transfused survived.

Objective: The objective of this study was to determine the frequency and clinical significance of a systemic inflammatory response as defined by an elevated plasma interleukin-6 concentration in fetuses with preterm labor or preterm premature rupture of membranes., Study Design: Amniocenteses and cordocenteses were performed in 157 patients with preterm labor and preterm premature rupture of membranes. Written informed consent and multi-institutional review board approvals were obtained. Amniotic fluid was cultured for aerobic and anaerobic bacteria, as well as mycoplasmas. Amniotic fluid and fetal plasma interleukin-6 concentrations were measured with a sensitive and specific immunoassay. Statistical analyses included contingency tables, receiver operating characteristic curve analysis, and multiple logistic regression., Results: One hundred five patients with preterm labor and 52 patients with preterm premature rupture of membranes were included in this study. The overall prevalence of severe neonatal morbidity (defined as the presence of respiratory distress syndrome, suspected or proved neonatal sepsis, pneumonia, bronchopulmonary dysplasia. intraventricular hemorrhage, periventricular leukomalacia, or necrotizing enterocolitis) among survivors was 34.8% (54/155). Neonates in whom severe neonatal morbidity developed had higher concentrations of fetal plasma interleukin-6 than fetuses without development of severe neonatal morbidity (median 14.0 pg/mL, range 0.5 to 900 vs median 5.2 pg/mL, range 0.3 to 900, respectively; P < .005). Multivariate analysis was performed to explore the relationship between the presence of a systemic fetal inflammatory response and subsequent neonatal outcome. To preserve a meaningful temporal relationship between the results of fetal plasma interleukin-6 concentrations and the occurrence of severe neonatal morbidity, the analysis was restricted to 73 fetuses delivered within 7 days of cordocentesis who survived. The prevalence of severe neonatal morbidity in this subset of patients was 53.4% (39/73). A fetal plasma interleukin-6 cutoff value of 11 pg/mL was used to define the presence of a systemic inflammatory response. The prevalence of a fetal plasma interleukin-6 level > 11 pg/mL was 49.3% (36/73). Fetuses with fetal plasma interleukin-6 concentrations > 11 pg/mL had a higher rate of severe neonatal morbidity than did those with fetal plasma interleukin-6 levels < or = 11 pg/mL (77.8% [28/36] vs 29.7% [11/37], respectively; P < .001). Stepwise logistic regression analysis demonstrated that the fetal plasma interleukin-6 concentration was an independent predictor of the occurrence of severe neonatal morbidity (odds ratio 4.3, 95% confidence interval 1 to 18.5) when adjusted for gestational age at delivery, the cause of preterm delivery (preterm labor or preterm premature rupture of membranes), clinical chorioamnionitis, the cordocentesis-to-delivery interval, amniotic fluid culture, and amniotic fluid interleukin-6 results., Conclusion: A systemic fetal inflammatory response, as determined by an elevated fetal plasma interleukin-6 value, is an independent risk factor for the occurrence of severe neonatal morbidity.

Spontaneously-dividing nucleated erythrocytes present in prenatal cordocentesis samples can be used to obtain fetal karyotype information within 24 hours. Following a modified protocol we performed rapid chromosome analysis on fetal blood from 70 second- and third-trimester fetuses. In all cases cordocentesis was performed following detection of ultrasound abnormalities. Cytogenetic diagnoses were obtained within 24 hours from 59 (84.3%) of the 70 samples. Follow-up chromosome analysis from mitogen-stimulated cultures showed concordant results in 57 of the 59 successful cases. In one case a mosaicism for 45, X[4]/46,X,i(X)(q10)[4] was detected in unstimulated harvest while mitogen-stimulated preparations showed only the 46,X,i(X)(q10) line. In the second case, a marker chromosome was identified in all 5 cells analyzed from the unstimulated harvest while mitogen-stimulated cultures showed only 4 out of 100 cells with the marker.

Objective: To document perinatal changes in cerebral and renal artery haemodynamics in premature growth-retarded and normal term infants., Design: Longitudinal study of individual infants. Doppler ultrasound measurements of blood flow velocity (BFV) in the middle cerebral and renal arteries were obtained before delivery, soon after delivery and during the first week of postnatal life., Setting: Teaching hospital obstetric and neonatal units., Subjects: 13 severely growth retarded infants born at 28-36 weeks gestation, and eight normally grown infants born at term., Results: In both groups, BFV in the cerebral artery was significantly lower in the first few hours after birth than in fetal life, but subsequently increased to reach pre-delivery values by the end of the first week. In contrast, BFV in the renal artery during the first postnatal day was not significantly different from fetal values, but it also increased during the subsequent week. In six of the preterm growth-retarded infants, fetal blood gases were measured in samples obtained by cordocentesis, and in these cases an increase in blood oxygen content at birth was documented., Conclusions: Cerebral artery BFV falls at birth and is relatively low during the time that premature infants are at the greatest risk of developing periventricular haemorrhage.

Objective: Lower changes in optical density (450 nm) measurements have been reported in fetuses with anti-Kell anemia compared with those anti-D anemia. The purpose of this investigation was to determine if hemolysis and erythropoiesis differ between anti-Kell and anti-D hemolytic disease., Study Design: Ninety-three pregnancies complicated by either anti-D or anti-Kell alloimmunization were evaluated. Fetal blood samples obtained at the first cordocentesis were tested for the red blood cell antigen type, hemoglobin, hematocrit, reticulocyte count, nucleated red blood cells, total serum bilirubin concentration, umbilical venous respiratory blood gases, serum erythropoietin level, and strength of the direct Coombs test. To determine the evolution of hemolytic anemia in the two antigen groups, these laboratory parameters were repeated on the fetal blood samples triggering the decision to perform a fetal intravascular transfusion (hematocrit <30%)., Results: A total of 65 of 93 fetuses were antigen positive (11 for Kell and 54 for RhD). The mean gestational age and laboratory measurements of antigen- positive, nonanemic fetuses at first blood sampling did not differ significantly between groups. There was a strong inverse relationship observed between the hemoglobin concentration and reticulocyte count independent of gestational age in the anti-D group but not in the anti-Kell group. Eight (73%) fetuses with anti-Kell antibodies and 37 (69%) with anti-D antibodies underwent intravascular transfusion. At the cordocentesis when the decision for transfusion was made, anti-Kell anemic fetuses had lower reticulocyte counts and total bilirubin concentrations. The strong inverse relationship between the hemoglobin and reticulocyte count was again seen only in the anti-D group. In both groups, fetal erythropoietin increased significantly between the first and last blood samplings and in each group were negatively correlated with hemoglobin independent of gestational age., Conclusion: Anti-Kell anemic fetuses have lower reticulocyte counts and total serum bilirubin levels than do comparable anti-D anemic fetuses. This finding argues in favor of fetal blood sampling rather than amniotic fluid analyses for the management of fetal hemolytic disease resulting from Kell antibodies. Unlike RhD alloimmunized fetuses, these fetuses do not manifest an inverse relationship between hemoglobin concentration and reticulocyte count. We speculate that compared to anti-D fetal anemia, anti-Kell anemia is associated with increased hemolysis of nonhemoglobinized or incompletely hemoglobinized erythroid precursors.

Objective: The aim of this study was to evaluate the relationship between uteroplacental circulatory insufficiency and the fetoplacental release of adenosine in pregnancies complicated by preeclampsia., Study Design: We performed uterine artery Doppler velocimetry and calculated the pulsatility index of the uterine artery, to detect uteroplacental circulatory insufficiency, immediately before cordocentesis in 39 pregnant women complicated by preeclampsia. Umbilical venous blood obtained by cordocentesis was then analyzed for blood gases, pH, and plasma adenosine levels. Increased plasma adenosine was taken to signal its increased release from the placenta and fetus relative to its rate of disappearance., Results: The mean umbilical venous plasma adenosine level in the abnormal pulsatility index group was 1.78 +/- 0.17 mumol/L (mean +/- SEM, n = 25), significantly higher than in the normal pulsatility index group 0.58 +/- 0.14 mumol/L (n = 14, p < 0.001). Furthermore, in the abnormal pulsatility index group the elevation of plasma adenosine levels in the umbilical vein was found even in normoxic fetuses., Conclusion: Fetal plasma adenosine increases before uteroplacental circulatory insufficiency becomes severe enough to cause generalized fetal hypoxemia. We postulate that enhanced adenosine formation in the fetus, umbilical cord vessels, and particularly the placenta may, at least in part, contribute to control and maintenance of placental blood flow.

Objective: Our purpose was to investigate arterial, venous, and intracardiac blood flow in growth-retarded fetuses and to relate the Doppler results to blood gases in umbilical venous blood obtained by cordocentesis., Study Design: A cross-sectional, pulsed-wave color Doppler ultrasonographic study of 23 severely growth-retarded fetuses undergoing cordocentesis and measurement of blood gases was performed. Blood velocity waveforms were recorded from the descending thoracic aorta, middle cerebral artery, inferior vena cava, ductus venosus, and atrioventricular valves., Results: The Doppler studies demonstrated evidence of redistribution in the arterial system with increased impedance to flow in the aorta and decreased impedance in the cerebral circulation. The velocity of flow in the venous system and across the atrioventricular valves was decreased, whereas pulsatility of waveforms in the inferior vena cava and ductus venosus was increased. The mean umbilical venous blood PO2 and pH were decreased, and there were significant associations between blood gases and Doppler parameters in the thoracic aorta, middle cerebral artery, and ductus venosus., Conclusion: In severe intrauterine growth retardation the degree of fetal acidemia can be estimated from Doppler measurements of pulsatility in both the arterial system and the ductus venosus.

Objective: Our purpose was to compare hematologic and biochemical values in cordocentesis specimens from twin pairs with and without stuck twin syndrome., Study Design: Cordocentesis was performed on 38 twin pairs. Assignment to the stuck twin syndrome group (n = 8) was based on ultrasonographic findings of discordant size and amniotic fluid volume, concordant gender, and a single placenta. A receiver-operator characteristic curve was constructed with the use of intertwin hemoglobin differences. For the stuck twin syndrome group regression analysis of gestational age and intertwin hemoglobin difference was done., Results: We found significant (p = 0.03) intertwin differences in hemoglobin between the stuck twin syndrome group (mean 5.35 gm/dl, range 0.5 to 15.4 gm/dl) and the comparison group (mean 0.10 gm/dl, range 0.0 to 2.4 gm/dl). A nearly significant relationship between gestational age and intertwin hemoglobin difference was noted in the stuck twin syndrome group. When the hemoglobin difference was > 2.4 gm/dl, all cases had stuck twin syndrome (sensitivity = 50%, specificity = 100%, positive predictive value = 100%, negative predictive value = 91%). In the stuck twin syndrome group there was a trend toward larger intertwin differences in albumin and total protein. Intertwin blood gas values between the groups did not differ, but the average PO2 was lower when the smaller twins of the two groups were compared., Conclusion: An intertwin difference in hemoglobin > 2.4 gm/dl is consistent with stuck twin syndrome. Large intertwin hemoglobin differences and imbalances in albumin and total protein may be seen in stuck twin syndrome.

The objectives of this study were (1) to detect vasoactive intestinal polypeptide in fetal blood obtained by cordocentesis (2) to examine possible changes in growth retarded fetuses and to establish relationships between its levels and fetal blood acid-base status as well as fetal haemodynamics as assessed by Doppler ultrasonography. Vasoactive intestinal polypeptide was measured in umbilical vein blood obtained at cordocentesis in 12 growth retarded fetuses and in 13 control fetuses. Umbilical vein pH and PO2 values were determined in all the cases. Before the procedure, Doppler indices were calculated from umbilical artery, middle cerebral artery, renal artery, cardiac outflow tracts and inferior vena cava. Simple and multiple stepwise regression analysis were performed to examine the relationships between Doppler indices, acid-base status and vasoactive intestinal polypeptide levels. In control fetuses, vasoactive intestinal polypeptide was always detectable in cord blood and its levels did not change with gestational age. In growth retarded fetuses, vasoactive intestinal polypeptide levels were higher and significantly related to umbilical vein PO2 levels, Pulsatility Index in umbilical artery, middle cerebral artery and renal artery, while no relationship was found with umbilical vein pH, cardiac and venous Doppler indices. Stepwise multiple regression demonstrated middle cerebral artery Pulsatility Index to be the best explanatory variable for vasoactive intestinal polypeptide levels. In conclusion, vasoactive intestinal polypeptide blood levels are increased in growth retarded fetuses and this increase is inversely related to the Doppler measured impedance to flow in middle cerebral artery.

Controversy continues regarding the clinical relevance of absent or reversed umbilical artery blood flow during diastole. The purpose of this study was to characterize the blood gas and lactate measurements of growth deficient fetuses with absent (ADF) or reversed (RDF) umbilical artery (UA) diastolic flow. In a descriptive study from February 1988 through October 1991, 42 consecutive structurally and karyotypically normal growth deficient fetuses identified to have either ADF or RDF diastolic flow in the UA were studied. Heparinized blood specimens were obtained from them and the pH, PCO2, PO2 and lactate measured. Fourteen of these specimens were obtained from the umbilical vein by cordocentesis and 28 at the caesarean delivery of non-labouring patients. Statistical analyses were performed using Fisher's exact test, Student t-test and linear correlation. All measured parameters in fetuses with ADF or RDF undergoing cordocentesis were significantly abnormal compared to gestational age corrected norms. Both the mean venous and arterial pH of fetuses with RDF were significantly lower than that of fetuses with ADF. With few exceptions, preoperative maternal oxygenation failed to correct the fetal hypoxaemia associated with either ADF or RDF. In the setting of severe fetal growth deficiency secondary to uteroplacental dysfunction, ADF and RDF are clinically reliable indicators of fetal compromise as determined by the umbilical blood gases. RDF is associated with a greater impairment of placental gas exchange than ADF.

A cross-sectional study of 64 women and their fetuses undergoing cordocentesis at 18-25 weeks showed no significant correlation between maternal and fetal Hb or MCV and no relationship between these measurements and fetal abdominal circumference. We found no evidence for a nutritional or physiological association between maternal and fetal haematological status.

Objective: Our purpose was to study platelet size and surface glycoprotein expression in normal fetal and maternal blood throughout pregnancy., Study Design: A cross-sectional study was performed at the Harris Birthright Research Centre for Fetal Medicine, King's College Hospital Medical School, London. Fetal and maternal blood samples were obtained from uncomplicated pregnancies at 8 to 42 weeks' gestation (n = 101 and n = 117, respectively) and from 30 nonpregnant controls. Flow cytometry was used to determine platelet size and glycoprotein Ib and IIIa expression both before and after stimulation with adenosine diphosphate., Results: Mean platelet size in both fetal and maternal blood was significantly lower than that of nonpregnant controls and decreased with advancing gestation. The surface density of glycoprotein Ib in maternal and fetal platelets was significantly lower than in nonpregnant controls but did not change with gestation. Adenosine diphosphate stimulation of maternal platelets resulted in increased percentage expression and surface density of all glycoproteins, whereas stimulation of control platelets resulted in increased surface density of glycoprotein Ib and percentage expression of glycoprotein IIIa. Adenosine diphosphate stimulation of fetal platelets resulted in increased surface density of glycoprotein Ib and IIIa., Conclusion: Pregnancy is associated with increased thrombocytopoiesis in both the mother and fetus. Maternal platelet glycoprotein expression and responsiveness to adenosine diphosphate stimulation is increased. Fetal platelets are phenotypically mature from at least 12 weeks' gestation and respond in an adultlike fashion to stimulation with adenosine diphosphate.